M3I (p.Met3Ile) variant of SIX1 (Homeobox protein SIX1)
M3I (p.Met3Ile) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M3I (p.Met3Ile) variant details
- p.Met3Ile
- TOPMed rs1895013216
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.114